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. 2023 Dec;40(12):5315-5337.
doi: 10.1007/s12325-023-02685-w. Epub 2023 Sep 30.

Patient and Caregiver Outcomes After Onasemnogene Abeparvovec Treatment: Findings from the Cure SMA 2021 Membership Survey

Walter Toro  1 , Min Yang  2 , Mihaela Georgieva  2 , Annika Anderson  3 , Nicole LaMarca  4 , Anish Patel  4 , Hanane Akbarnejad  2 , Omar Dabbous  4
Affiliations

Patient and Caregiver Outcomes After Onasemnogene Abeparvovec Treatment: Findings from the Cure SMA 2021 Membership Survey

Walter Toro et al. Adv Ther. 2023 Dec.

Abstract

Introduction: Onasemnogene abeparvovec (OA) is the only gene replacement therapy currently approved for spinal muscular atrophy (SMA) treatment. We sought to assess real-world patient and caregiver outcomes after OA treatment for SMA.

Methods: Patients who received OA were identified from the 2021 Cure SMA Membership Survey. Those treated at 6-23 months of age were matched to non-patients treated with OA on the basis of age at the time of survey and survival motor neuron 2 gene copy number. Patient characteristics, motor milestones, and resource and supportive care use, as well as caregiver proxy-reported health-related quality of life (HRQOL), were described. Caregiver unmet needs and HRQOL were also assessed.

Results: Of the 614 patients in the survey, 64 received OA, and 17 were matched with 28 non-OA-treated patients. In general, a greater percentage of OA-treated patients achieved various motor milestones, including 100% sitting without support and 58.8% walking with assistance. OA-treated patients also had numerically lower rates of hospitalization and surgery. None required tracheostomy with a ventilator. The rate of using oxygen or a breathing machine for more than 16 h was also lower for OA-treated patients. OA-treated patients had less frequent trouble swallowing. HRQOL was reported to be similar to non-OA-treated patients. Caregivers of OA-treated patients reported better patient mobility scores and less work impairment.

Conclusions: The study suggests that treatment with OA is associated with greater rates of motor milestone achievements and less resource and supportive care use for patients with SMA treated at 6-23 months of age in the real world. For caregivers, it may also potentially reduce unmet needs, improve HRQOL, and reduce work impairment.

Keywords: Caregiver impact; Gene replacement therapy; Health care resource utilization; Health-related quality of life; Motor milestones; Onasemnogene abeparvovec; Spinal muscular atrophy; Survey; Unmet needs.

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Conflict of interest statement

Walter Toro, Anish Patel, and Omar Dabbous are Novartis Gene Therapies, Inc., employees and own Novartis stock or other equities. Nicole LaMarca was an employee of Novartis Gene Therapies, Inc., at the time of the study and analysis. Min Yang, Annika Anderson, and Hanane Akbarnejad are employees of Analysis Group, Inc., which has received consulting fees from Novartis Gene Therapies, Inc., for this research. Mihaela Georgieva was an employee of Analysis Group, Inc., at the time of the study and analysis.

Figures

Fig. 1
Fig. 1
Motor milestones for patients who received onasemnogene abeparvovec at 6–23 months of age and comparable non–onasemnogene abeparvovec-treated patients, overall (A), in subgroups with two SMN2 copies (B), and three or more SMN2 copies (C). Motor milestones were assessed only for patients old enough to achieve each developmental milestone. Cutoffs for each motor function were defined as follows: head control, 4 months; voluntary grasping, 4 months; kicking, 4 months; roll over, 6 months: sitting without support, 9 months; hands and knees crawling, 9 months; standing with assistance, 9 months; walking with assistance, 12 months. Patients who were missing data for this question and those who were younger than the age cutoffs and had not yet reached the milestone at the time of the survey were removed from the denominator. Three non–onasemnogene abeparvovec-treated patients were missing information on developmental milestones and were not included in this analysis. OA onasemnogene abeparvovec, SMN2 survival motor neuron 2 gene
See this image and copyright information in PMC

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